Canonical Allele Identifier: CA368522609
Gene: TFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626762C>G , CM000669.2:g.100626762C>G GRCh38
NC_000007.13:g.100224385C>G , CM000669.1:g.100224385C>G GRCh37
NC_000007.12:g.100062321C>G NCBI36
NG_007989.1:g.19789G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.2136+1G>C MANE Select ENSP00000223051.3:n.2136+1G>C
ENST00000223051.7:c.2136+1G>C ENSP00000223051.3:n.2136+1G>C
ENST00000431692.5:c.*811+1G>C ENSP00000413905.1:n.*811+1G>C
ENST00000461176.1:n.483G>C
ENST00000462090.5:n.1172+1G>C
ENST00000462107.1:c.2136+1G>C ENSP00000420525.1:n.2136+1G>C
ENST00000465294.5:n.2056+1G>C
ENST00000476304.5:n.1757+1G>C
ENST00000490084.5:c.1489+1G>C
NM_001206855.1:c.1623+1G>C NP_001193784.1:n.1623+1G>C
NM_003227.3:c.2136+1G>C NP_003218.2:n.2136+1G>C
XM_005250553.3:c.2136+1G>C XP_005250610.1:n.2136+1G>C
XM_005250554.3:c.2136+1G>C XP_005250611.1:n.2136+1G>C
XR_927814.1:n.433+4208C>G
NM_001206855.2:c.1623+1G>C NP_001193784.1:n.1623+1G>C
XM_005250553.4:c.2136+1G>C XP_005250610.1:n.2136+1G>C
XM_017012573.1:c.2136+1G>C XP_016868062.1:n.2136+1G>C
NM_003227.4:c.2136+1G>C MANE Select NP_003218.2:n.2136+1G>C
NM_001206855.3:c.1623+1G>C NP_001193784.1:n.1623+1G>C